15q24 microdeletion syndrome
|
(Orphanet:94065)
|
17q23.1q23.2 microdeletion syndrome
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(Orphanet:261279)
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3q29 microduplication
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(Orphanet:251038)
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ARTHROGRYPOSIS, DISTAL, TYPE 1A
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(OMIM:108120)
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Autosomal recessive multiple pterygium syndrome
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(Orphanet:2990)
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Blepharophimosis-intellectual deficit syndrome, Ohdo type
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(Orphanet:2728)
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Borjeson-Forssman-Lehmann syndrome
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(Orphanet:127)
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CHST3-related skeletal dysplasia
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(Orphanet:263463)
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Camptodactyly - tall stature - scoliosis - hearing loss
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(Orphanet:85164)
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Camptodactyly - taurinuria
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(Orphanet:1325)
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Distal 22q11.2 microduplication syndrome
|
(Orphanet:261337)
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Gordon syndrome
|
(Orphanet:376)
|
Greig cephalopolysyndactyly syndrome
|
(Orphanet:380)
|
HUNTER-MACDONALD SYNDROME
|
(OMIM:611962)
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Juberg-Hayward syndrome
|
(Orphanet:2319)
|
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
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(OMIM:608257)
|
Oculofaciocardiodental syndrome
|
(Orphanet:2712)
|
Shprintzen-Goldberg syndrome
|
(Orphanet:2462)
|
Stüve-Wiedemann syndrome
|
(Orphanet:3206)
|
Terminal osseous dysplasia - pigmentary defects
|
(Orphanet:88630)
|
Torg-Winchester syndrome
|
(Orphanet:3460)
|
Townes-Brocks syndrome
|
(Orphanet:857)
|
Tricho-oculo-dermo-vertebral syndrome
|
(Orphanet:3354)
|
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
|
(OMIM:300280)
|
Urban-Rogers-Meyer syndrome
|
(Orphanet:3409)
|
Van den Ende-Gupta syndrome
|
(Orphanet:2460)
|
W syndrome
|
(Orphanet:2804)
|